Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

Blood - 1 May 2001

Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Calì A, De Gobbi M, Gasparini P, Camaschella C

Abstract excerpt

Hereditary hemochromatosis usually results from C282Y homozygosity in the HFE gene on chromosome 6p. Recently, a new type of hemochromatosis (HFE3) has been characterized in 2 unrelated Italian families with a disorder linked to 7q. Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X). Here the identification of 2 new TFR2 mutations is reported. In a large...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Receptors, Transferrin

Share to Transferrin

Source

Identifiers

PMID: 11313241
DOI: 10.1182/blood.v97.9.2555

Genes

TFR2
HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.PMID 11313241Read ↗

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.Semantic proximity Read ↗

Hemochromatosis due to mutations in transferrin receptor 2.Semantic proximity Read ↗

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.Semantic proximity Read ↗

New TFR2 mutations in young Italian patients with hemochromatosis.Semantic proximity Read ↗

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.Semantic proximity Read ↗

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.Semantic proximity Read ↗

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.Semantic proximity Read ↗

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary HemochromatosisSemantic proximity Read ↗

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.Semantic proximity Read ↗

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.Semantic proximity Read ↗

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.Semantic proximity Read ↗

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.